A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings
Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial phenotype. Autosomal dominant mutations and deletions of the nuclear receptor set domain gene (NSD1), which is located...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2013-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1482 |
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